MCID: SVR093
MIFTS: 12

Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Severe Intellectual Disability-Progressive Postnatal...

MalaCards integrated aliases for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome:

Name: Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome 58
Iqsec2-Related Syndromic Intellectual Disability 58

Characteristics:

Orphanet epidemiological data:

58
severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Severe Intellectual Disability-Progressive Postnatal...

MalaCards based summary : Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome, is also known as iqsec2-related syndromic intellectual disability. An important gene associated with Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome is IQSEC2 (IQ Motif And Sec7 Domain ArfGEF 2). Related phenotypes are developmental regression and global developmental delay

Related Diseases for Severe Intellectual Disability-Progressive Postnatal...

Symptoms & Phenotypes for Severe Intellectual Disability-Progressive Postnatal...

Human phenotypes related to Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome:

58 31 (showing 19, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 frequent (33%) Frequent (79-30%) HP:0002376
2 global developmental delay 58 31 frequent (33%) Frequent (79-30%) HP:0001263
3 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
4 impaired social interactions 58 31 frequent (33%) Frequent (79-30%) HP:0000735
5 progressive microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000253
6 stereotypical hand wringing 58 31 frequent (33%) Frequent (79-30%) HP:0012171
7 seizure 31 frequent (33%) HP:0001250
8 hypotonia 31 frequent (33%) HP:0001252
9 self-injurious behavior 58 31 occasional (7.5%) Occasional (29-5%) HP:0100716
10 macrotia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000400
11 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
12 absent speech 58 31 occasional (7.5%) Occasional (29-5%) HP:0001344
13 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
14 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
15 hyperkinetic movements 58 31 occasional (7.5%) Occasional (29-5%) HP:0002487
16 inappropriate crying 58 31 occasional (7.5%) Occasional (29-5%) HP:0030215
17 seizures 58 Frequent (79-30%)
18 muscular hypotonia 58 Frequent (79-30%)
19 behavioral abnormality 58 Frequent (79-30%)

Drugs & Therapeutics for Severe Intellectual Disability-Progressive Postnatal...

Search Clinical Trials , NIH Clinical Center for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome

Genetic Tests for Severe Intellectual Disability-Progressive Postnatal...

Anatomical Context for Severe Intellectual Disability-Progressive Postnatal...

Publications for Severe Intellectual Disability-Progressive Postnatal...

Variations for Severe Intellectual Disability-Progressive Postnatal...

Expression for Severe Intellectual Disability-Progressive Postnatal...

Search GEO for disease gene expression data for Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome.

Pathways for Severe Intellectual Disability-Progressive Postnatal...

GO Terms for Severe Intellectual Disability-Progressive Postnatal...

Sources for Severe Intellectual Disability-Progressive Postnatal...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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